An axonal form of Charcot-Marie-Tooth disease showing distinctive featuresin association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)
K. Misu et al., An axonal form of Charcot-Marie-Tooth disease showing distinctive featuresin association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val), J NE NE PSY, 69(6), 2000, pp. 806-811
Objectives and Methods-Seven families were studied with an axonal form of C
harcot-Marie-Tooth disease (CMT) associated with mutations in the periphera
l myelin protein zero (MPZ) gene-Thr124Met or Asp75Val.
Results-Patients with these mutations commonly showed relatively late onset
sensorimotor neuropathy predominantly involving the lower limbs. Sensory i
mpairment typically was marked, and distal muscle atrophy and weakness were
also present in the legs. Adie's pupil and deafness were often present, an
d serum creatine kinase concentrations were often raised irrespective of wh
ich MPZ mutation was present. Relatively well preserved motor and sensory n
erve conduction velocities contrasted with reduced or absent compound muscl
e action potentials and sensory nerve action potentials. Axonal change with
marked axonal sprouting was seen in sural nerve specimens.
Conclusion-The similar associated clinical findings suggest that patients w
ith axonal CMT with an MPZ gene mutation share distinctive clinical feature
s.